What Is Epidermolysis Bullosa And How Is It Caused?

Add as a preferred source on Google

A rare kind of inherited condition that causes the blistering of the skin is called epidermolysis bullosa. The trigger behind the occurrence of these skin blisters could be anything from heat, scratching, rubbing, friction or a minor injury. Continue reading to know about the condition in detail.

What Is Epidermolysis Bullosa?

Usually a genetic condition, epidermolysis bullosa causes the formation of blisters on the skin and mucous membranes. In severe cases, blisters might occur inside the body, such as in the lining of the stomach or mouth.

As the condition is mostly inherited, it begins to show up during early childhood years. However, some might not develop symptoms till early adulthood. Mild symptoms of it might heal or at least improve with age. There is medically no permanent cure for this illness. The treatment received would just be to treat the blisters and prevent the occurrence of new blisters.

How Is Epidermolysis Bullosa Caused?

The gene of this disease is usually passed on by one of the parents who already has this disease. In some cases, it is passed on from both the parents. Also, in the affected person, it can also arise as a new mutation.

The outer layer of the skin is called the epidermis and the inner layer is called the dermis. These layers meet at the basement membrane. Epidermolysis bullosa is categorized based on where exactly it occurs.

• Epidermolysis bullosa simplex:

Develops in the outer layer of the skin and is the most common kind. It is seen to affect the feet and palms.

• Junctional epidermolysis bullosa:

Involves the formation of blisters during infancy and is very severe.

• Dystrophic epidermolysis bullosa:

This is linked to a flaw in the gene that is responsible for the production of collagen. Collagen provides strength to the dermis layer and the layers do not join properly when this is missing.

What Are The Symptoms?

The presence of this condition makes the skin of the person very fragile. Slightest of touch can lead to the occurrence of blisters.
The typical signs and symptoms of this ailment are:

• Skin tearing
• Hair loss
• Blisters on the scalp and skin
• Skin looks thin
• White bumps on the skin
• Loss of toenails/fingernails
• Deformity of the nails
• Blisters of the eye
• Excessive sweating
• Difficulty while swallowing if there are blisters in the throat or mouth
• Hoarseness of voice due to blistering in the throat
• Breathing difficulties when there is blistering in the airway
• Urination is painful if there is blistering in the urinary tract

In a rare kind of this condition known as Kindler syndrome, blisters occur from the time of birth.

How Is It Diagnosed?

The appearance of the affected skin might be enough for a doctor to suspect epidermolysis bullosa. Laboratory tests are conducted to confirm the diagnosis.

• Skin biopsy: This is done for immunofluorescent mapping. A sample of the affected skin is taken and examined under a microscope. Light is reflected on the sample during this process to determine the layers of the skin which are affected.

• Genetic testing: This is the best way to confirm the diagnosis as most of the time, this condition is inherited. In this form of testing, a blood sample is analyzed.

• Prenatal testing: In families where there is a history of this condition, family members might need to take up prenatal testing and genetic counseling.

Can Epidermolysis Bullosa Be Cured?

Currently, there is no cure for this condition. However, the following treatment strategies are ideally followed.

• Medication

Pain and itching can be controlled through medicines. If the wounds appear to show widespread infection, then your doctor might prescribe oral antibiotics.

• Surgery

1. Eating could get difficult if there is blistering of the oesophagus that might have caused oesophageal narrowing. In this case, surgical dilation of the oesophagus is done.

2. A feeding pipe can be implanted such that food can be delivered to the stomach directly. This would help with weight gain and the required nutrition support.

3. A skin grating is performed in case scarring affects the functionality of the hand.

4. Abnormal bends in the joints can occur along with the fusion of fingers or toes due to repeated blistering. Surgery is then performed to treat and correct these conditions and restore mobility.

• Rehabilitation therapy

A rehabilitation therapist such as an occupational therapist or a physical therapist can work with the patient to ease the motion and movement limitations caused due to contractures and scarring.

In general, you would need to maintain a healthy lifestyle. Ensure that you keep the wounds clean.

Is Epidermolysis Bullosa Fatal?

Severe forms of epidermolysis bullosa, especially during infancy, can turn out to be fatal. Large blisters with ulcers can lead to several other infections. These would also involve loss of fluids in large quantities. This may lead to fatality.

Disclaimer: The information provided in this article is for general informational and educational purposes only and is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or a qualified healthcare provider with any questions you may have regarding a medical condition.